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Discordant gonadal hypogenesis in apparently MZ twins

Published online by Cambridge University Press:  01 August 2014

U. Bigozzi ,
A. Borghi ,
M. Salti  and
G. Giusti
U. Bigozzi
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica I Università di Firenze, (Italia) Istituto di Patologia Speciale Medica e Metodologia Clinica II
A. Borghi
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica I Università di Firenze, (Italia) Istituto di Patologia Speciale Medica e Metodologia Clinica II
M. Salti
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica I Università di Firenze, (Italia) Istituto di Patologia Speciale Medica e Metodologia Clinica II
G. Giusti
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica I Università di Firenze, (Italia) Istituto di Patologia Speciale Medica e Metodologia Clinica II

Summary

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A case of probably MZ twin girls is reported, one of which presenting a serious gonadal hypoplasia, macroschelia and a number of slight malformations, while the other appeared perfectly normal. Both twins presented positive sex-chromatine and a normal karyotype, i. e. 44 A + XX.

After a review of twin cases of the « rudimentary gonad syndrome » — which may differ as to its origin, according to the various cases — the present case, the anomalies exhibited by one of the twins are probably the result of the action of a number of noxae, in the course of embryological or fetal life.

Résumé

RÉSUMÉ

Les Auteurs décrivent deux jumelles, très vraisemblablement monozygotiques; l'une présentant une sérieuse hypogénésie ovarienne, macroskélie et quelques malformations congénitales, tandis que l'autre paraît tout-à-fait normale. Toutes les deux ont chromatine sexuelle positive et karyotype féminin normal, 44 A + XX.

Après une révue synthétique des couples jumelaires atteints du « syndrome des gonades rudimentaires » signalés dans la littérature, (dont la pathogénèse peut être très différente selon les cas), les Auteurs envisagent la possibilité que, dans ce cas, les anomalies observées chez l'une des deux jumelles soient imputables à des noxae qui auraient expliqué leuc action pendant la vie embryonnaire ou fœtale.

Zusammenfassung

ZUSAMMENFASSUNG

Verf. beschreiben ein wahrscheinlich eineiiges weibliches Zwillingspaar: eine davon wies eine schwere Gonadenhypogenesie mit Makroskelie und bescheidenen Missbildungsanzeichen auf, während die andere — wenigstens dem Anschein nach — völlig normal war. Bei beiden Paarlingen war das Kernchromatin positiv und der Karyotyp 44 A + XX.

Nach kurzem kritischem Überblick über die Zwillingsfälle mit « Rudimentärgonaden-Syndrom » kommen Verf. zu dem Schluss, dass bei dem von ihnen vorgetragenen Zwillingspaar die bei einem Paarling festgestellten Anomalien wahrscheinlich auf die Aktion von irgendwelchen Noxen im Laufe des Embryonal- oder wenigstens des Fötallebens zurückzuführen sind.

Riassunto

Riassunto

Gli AA. descrivono una coppia di gemelle, verosimilmente MZ, una delle quali presentava una grave ipogenesia gonadica, con macroschelia e modeste note malformative; mentre l'altra è, almeno in apparenza, del tutto normale. Ambedue le gemelle hanno cromatina nucleare positiva e cariotipo 44 A + XX.

Dopo un rapido esame critico dei casi gemellari di « sindrome della gonade rudimentaria » — la cui genesi può essere molto diversa da caso e caso — gli AA. concludono affermando che nella coppia da loro segnalata le anomalie rilevate in una delle gemelle sono verosimilmente imputabili all'azione di noxae agenti nel corso della vita embrionale o, quanto meno, fetale.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 2 , April 1966 , pp. 199 - 207
Copyright
Copyright © The International Society for Twin Studies 1966

References

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